Incidental Mutation 'IGL02975:Tfdp2'
ID |
406350 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tfdp2
|
Ensembl Gene |
ENSMUSG00000032411 |
Gene Name |
transcription factor Dp 2 |
Synonyms |
A330080J22Rik, DP3, DP-3, 1110029I05Rik, DP3 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.950)
|
Stock # |
IGL02975
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
96078348-96205699 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 96199989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034982]
[ENSMUST00000165120]
[ENSMUST00000165768]
[ENSMUST00000179065]
[ENSMUST00000179416]
[ENSMUST00000185644]
[ENSMUST00000188008]
[ENSMUST00000189606]
[ENSMUST00000188750]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000034982
AA Change: E375K
|
SMART Domains |
Protein: ENSMUSP00000034982 Gene: ENSMUSG00000032411 AA Change: E375K
Domain | Start | End | E-Value | Type |
Pfam:E2F_TDP
|
66 |
147 |
3.8e-29 |
PFAM |
DP
|
154 |
298 |
1.69e-87 |
SMART |
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000165120
AA Change: E300K
|
SMART Domains |
Protein: ENSMUSP00000132934 Gene: ENSMUSG00000032411 AA Change: E300K
Domain | Start | End | E-Value | Type |
Pfam:E2F_TDP
|
1 |
72 |
3.2e-25 |
PFAM |
DP
|
79 |
223 |
1.69e-87 |
SMART |
low complexity region
|
270 |
286 |
N/A |
INTRINSIC |
low complexity region
|
296 |
310 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000165768
AA Change: E376K
|
SMART Domains |
Protein: ENSMUSP00000128260 Gene: ENSMUSG00000032411 AA Change: E376K
Domain | Start | End | E-Value | Type |
E2F_TDP
|
66 |
148 |
1.39e-33 |
SMART |
DP
|
155 |
299 |
1.69e-87 |
SMART |
low complexity region
|
346 |
362 |
N/A |
INTRINSIC |
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000179065
AA Change: E349K
|
SMART Domains |
Protein: ENSMUSP00000136817 Gene: ENSMUSG00000032411 AA Change: E349K
Domain | Start | End | E-Value | Type |
Pfam:E2F_TDP
|
40 |
121 |
3.9e-29 |
PFAM |
DP
|
128 |
272 |
1.69e-87 |
SMART |
low complexity region
|
319 |
335 |
N/A |
INTRINSIC |
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000179416
AA Change: E375K
|
SMART Domains |
Protein: ENSMUSP00000137176 Gene: ENSMUSG00000032411 AA Change: E375K
Domain | Start | End | E-Value | Type |
Pfam:E2F_TDP
|
66 |
147 |
3.8e-29 |
PFAM |
DP
|
154 |
298 |
1.69e-87 |
SMART |
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000185644
AA Change: E375K
|
SMART Domains |
Protein: ENSMUSP00000140061 Gene: ENSMUSG00000032411 AA Change: E375K
Domain | Start | End | E-Value | Type |
Pfam:E2F_TDP
|
66 |
147 |
3.8e-29 |
PFAM |
DP
|
154 |
298 |
1.69e-87 |
SMART |
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000188008
AA Change: E360K
|
SMART Domains |
Protein: ENSMUSP00000139848 Gene: ENSMUSG00000032411 AA Change: E360K
Domain | Start | End | E-Value | Type |
Pfam:E2F_TDP
|
50 |
132 |
1e-26 |
PFAM |
DP
|
139 |
283 |
8e-92 |
SMART |
low complexity region
|
330 |
346 |
N/A |
INTRINSIC |
low complexity region
|
356 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000189606
AA Change: E360K
|
SMART Domains |
Protein: ENSMUSP00000141084 Gene: ENSMUSG00000032411 AA Change: E360K
Domain | Start | End | E-Value | Type |
Pfam:E2F_TDP
|
50 |
132 |
1e-26 |
PFAM |
DP
|
139 |
283 |
8e-92 |
SMART |
low complexity region
|
330 |
346 |
N/A |
INTRINSIC |
low complexity region
|
356 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000188750
AA Change: E436K
|
SMART Domains |
Protein: ENSMUSP00000139926 Gene: ENSMUSG00000032411 AA Change: E436K
Domain | Start | End | E-Value | Type |
Pfam:E2F_TDP
|
127 |
208 |
1.3e-26 |
PFAM |
DP
|
215 |
359 |
8e-92 |
SMART |
low complexity region
|
406 |
422 |
N/A |
INTRINSIC |
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191133
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
|
Allele List at MGI |
All alleles(416) : Targeted, other(1) Gene trapped(415)
SNPs within 2kb(416 from dbSNP Build 128)
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
T |
C |
5: 99,381,784 (GRCm39) |
D326G |
possibly damaging |
Het |
Abtb3 |
A |
G |
10: 85,467,207 (GRCm39) |
I721V |
probably benign |
Het |
Ago4 |
C |
T |
4: 126,406,312 (GRCm39) |
|
probably null |
Het |
Ank |
A |
G |
15: 27,467,087 (GRCm39) |
|
probably benign |
Het |
Ankmy2 |
C |
A |
12: 36,243,773 (GRCm39) |
S329R |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,107,550 (GRCm39) |
E608G |
probably damaging |
Het |
Car1 |
G |
A |
3: 14,842,882 (GRCm39) |
L48F |
probably benign |
Het |
Cct8 |
A |
G |
16: 87,283,118 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
A |
T |
1: 118,390,277 (GRCm39) |
T154S |
probably damaging |
Het |
Clca4a |
A |
C |
3: 144,669,530 (GRCm39) |
I340M |
possibly damaging |
Het |
Cnksr3 |
C |
T |
10: 7,088,354 (GRCm39) |
|
probably null |
Het |
Cntrob |
T |
C |
11: 69,210,199 (GRCm39) |
T265A |
possibly damaging |
Het |
Ddx5 |
T |
C |
11: 106,672,711 (GRCm39) |
I605V |
probably benign |
Het |
Eif3i |
A |
G |
4: 129,489,105 (GRCm39) |
Y70H |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,506,811 (GRCm39) |
|
probably benign |
Het |
Fah |
A |
T |
7: 84,250,287 (GRCm39) |
S90T |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,161,020 (GRCm39) |
M3237L |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,215,760 (GRCm39) |
Y417H |
probably benign |
Het |
Fmnl2 |
C |
A |
2: 52,991,494 (GRCm39) |
F336L |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,899,153 (GRCm39) |
R847G |
probably damaging |
Het |
Gm17509 |
T |
C |
13: 117,357,308 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
T |
A |
1: 166,311,449 (GRCm39) |
Y470F |
possibly damaging |
Het |
Gm7461 |
T |
C |
8: 4,727,847 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch4 |
A |
T |
3: 87,961,743 (GRCm39) |
N134I |
possibly damaging |
Het |
Grina |
A |
G |
15: 76,133,185 (GRCm39) |
Y251C |
probably damaging |
Het |
Gsn |
A |
G |
2: 35,194,666 (GRCm39) |
D654G |
probably benign |
Het |
Hyal5 |
A |
G |
6: 24,891,451 (GRCm39) |
T422A |
probably benign |
Het |
Iars1 |
T |
A |
13: 49,858,325 (GRCm39) |
I377N |
probably damaging |
Het |
Ints3 |
A |
T |
3: 90,309,144 (GRCm39) |
|
probably benign |
Het |
Kdm4b |
G |
A |
17: 56,682,996 (GRCm39) |
|
probably null |
Het |
Kyat1 |
A |
G |
2: 30,076,687 (GRCm39) |
S276P |
probably damaging |
Het |
Lrrc1 |
A |
G |
9: 77,359,929 (GRCm39) |
C288R |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,790,379 (GRCm39) |
M664K |
probably benign |
Het |
Neb |
A |
T |
2: 52,188,879 (GRCm39) |
I817N |
probably damaging |
Het |
Nudt6 |
C |
A |
3: 37,473,667 (GRCm39) |
G18V |
probably damaging |
Het |
Or10a49 |
G |
A |
7: 108,468,062 (GRCm39) |
Q100* |
probably null |
Het |
Or4k52 |
T |
A |
2: 111,611,266 (GRCm39) |
Y200* |
probably null |
Het |
Or7a41 |
T |
C |
10: 78,870,867 (GRCm39) |
V79A |
possibly damaging |
Het |
Pde1c |
A |
G |
6: 56,135,921 (GRCm39) |
I341T |
probably damaging |
Het |
Pgm5 |
T |
C |
19: 24,812,212 (GRCm39) |
I107V |
probably benign |
Het |
Pot1b |
G |
A |
17: 55,969,454 (GRCm39) |
|
probably benign |
Het |
Prkca |
C |
T |
11: 108,231,503 (GRCm39) |
W58* |
probably null |
Het |
Slc12a9 |
T |
C |
5: 137,320,705 (GRCm39) |
K555R |
probably damaging |
Het |
Smoc2 |
A |
T |
17: 14,556,872 (GRCm39) |
Q107L |
probably damaging |
Het |
Sytl1 |
T |
A |
4: 132,988,343 (GRCm39) |
R4S |
probably benign |
Het |
Tbc1d4 |
A |
G |
14: 101,695,549 (GRCm39) |
L963P |
probably damaging |
Het |
Tmem63a |
A |
T |
1: 180,788,640 (GRCm39) |
M326L |
probably benign |
Het |
Vmn2r66 |
A |
G |
7: 84,656,182 (GRCm39) |
L278P |
probably damaging |
Het |
Wtap |
A |
G |
17: 13,202,398 (GRCm39) |
V11A |
possibly damaging |
Het |
Zcchc9 |
A |
T |
13: 91,954,172 (GRCm39) |
S28T |
possibly damaging |
Het |
Zfp12 |
C |
T |
5: 143,229,814 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tfdp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01566:Tfdp2
|
APN |
9 |
96,177,083 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01737:Tfdp2
|
APN |
9 |
96,182,465 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02725:Tfdp2
|
APN |
9 |
96,169,748 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02754:Tfdp2
|
APN |
9 |
96,199,592 (GRCm39) |
missense |
probably benign |
0.08 |
I2289:Tfdp2
|
UTSW |
9 |
96,199,848 (GRCm39) |
nonsense |
probably null |
|
R0329:Tfdp2
|
UTSW |
9 |
96,188,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R0330:Tfdp2
|
UTSW |
9 |
96,188,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R0478:Tfdp2
|
UTSW |
9 |
96,172,636 (GRCm39) |
missense |
probably benign |
0.01 |
R1843:Tfdp2
|
UTSW |
9 |
96,199,857 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1851:Tfdp2
|
UTSW |
9 |
96,179,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R2121:Tfdp2
|
UTSW |
9 |
96,177,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R2432:Tfdp2
|
UTSW |
9 |
96,192,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R4635:Tfdp2
|
UTSW |
9 |
96,179,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R5970:Tfdp2
|
UTSW |
9 |
96,199,627 (GRCm39) |
missense |
unknown |
|
R7488:Tfdp2
|
UTSW |
9 |
96,179,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R7905:Tfdp2
|
UTSW |
9 |
96,192,659 (GRCm39) |
missense |
|
|
R8222:Tfdp2
|
UTSW |
9 |
96,192,666 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8986:Tfdp2
|
UTSW |
9 |
96,172,637 (GRCm39) |
missense |
probably damaging |
0.98 |
R9544:Tfdp2
|
UTSW |
9 |
96,169,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R9588:Tfdp2
|
UTSW |
9 |
96,169,663 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tfdp2
|
UTSW |
9 |
96,188,911 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Posted On |
2016-08-02 |